Incidental Mutation 'R2090:Morc3'
ID |
231742 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Morc3
|
Ensembl Gene |
ENSMUSG00000039456 |
Gene Name |
microrchidia 3 |
Synonyms |
Zcwcc3, D16Jhu32e, 1110051N18Rik, 1110051N18Rik |
MMRRC Submission |
040095-MU
|
Accession Numbers |
|
Essential gene? |
Essential
(E-score: 1.000)
|
Stock # |
R2090 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
16 |
Chromosomal Location |
93629009-93672961 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
C to A
at 93663341 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Histidine to Asparagine
at position 515
(H515N)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000144369
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000044068]
[ENSMUST00000201097]
[ENSMUST00000202261]
|
AlphaFold |
F7BJB9 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000044068
AA Change: H515N
PolyPhen 2
Score 0.229 (Sensitivity: 0.91; Specificity: 0.88)
|
SMART Domains |
Protein: ENSMUSP00000040152 Gene: ENSMUSG00000039456 AA Change: H515N
Domain | Start | End | E-Value | Type |
Pfam:HATPase_c
|
25 |
130 |
8e-8 |
PFAM |
Pfam:HATPase_c_3
|
26 |
164 |
1.1e-18 |
PFAM |
Pfam:zf-CW
|
409 |
452 |
2.7e-19 |
PFAM |
low complexity region
|
461 |
472 |
N/A |
INTRINSIC |
low complexity region
|
630 |
639 |
N/A |
INTRINSIC |
coiled coil region
|
765 |
871 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000201097
|
SMART Domains |
Protein: ENSMUSP00000144058 Gene: ENSMUSG00000039456
Domain | Start | End | E-Value | Type |
Blast:HATPase_c
|
1 |
70 |
4e-39 |
BLAST |
Pfam:zf-CW
|
340 |
383 |
1.2e-16 |
PFAM |
low complexity region
|
392 |
403 |
N/A |
INTRINSIC |
low complexity region
|
557 |
566 |
N/A |
INTRINSIC |
coiled coil region
|
692 |
798 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000202261
AA Change: H515N
PolyPhen 2
Score 0.229 (Sensitivity: 0.91; Specificity: 0.88)
|
SMART Domains |
Protein: ENSMUSP00000144369 Gene: ENSMUSG00000039456 AA Change: H515N
Domain | Start | End | E-Value | Type |
Pfam:HATPase_c
|
25 |
130 |
8e-8 |
PFAM |
Pfam:HATPase_c_3
|
26 |
164 |
1.1e-18 |
PFAM |
Pfam:zf-CW
|
409 |
452 |
2.7e-19 |
PFAM |
low complexity region
|
461 |
472 |
N/A |
INTRINSIC |
low complexity region
|
630 |
639 |
N/A |
INTRINSIC |
coiled coil region
|
765 |
871 |
N/A |
INTRINSIC |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000232425
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000232639
|
Meta Mutation Damage Score |
0.0962 |
Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.4%
- 20x: 95.5%
|
Validation Efficiency |
100% (67/67) |
MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a protein that localizes to the nuclear matrix and forms nuclear bodies via an ATP-dependent mechanism. The protein is predicted to have coiled-coil and zinc finger domains and has RNA binding activity. Alternative splicing produces multiple transcript variants encoding distinct isoforms. [provided by RefSeq, Feb 2016] PHENOTYPE: Mice homozygous for a null allele die at or within a day of birth. [provided by MGI curators]
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 66 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Adam32 |
A |
G |
8: 25,391,456 (GRCm39) |
|
probably null |
Het |
Adcy7 |
A |
T |
8: 89,042,485 (GRCm39) |
T451S |
probably damaging |
Het |
Adgrg3 |
A |
T |
8: 95,766,558 (GRCm39) |
T410S |
possibly damaging |
Het |
Alg11 |
G |
T |
8: 22,555,646 (GRCm39) |
L302F |
possibly damaging |
Het |
Ankrd17 |
A |
G |
5: 90,445,905 (GRCm39) |
V310A |
possibly damaging |
Het |
Atg16l2 |
C |
T |
7: 100,942,575 (GRCm39) |
|
probably null |
Het |
B3gnt2 |
A |
G |
11: 22,786,291 (GRCm39) |
V299A |
probably benign |
Het |
Birc6 |
A |
G |
17: 74,969,791 (GRCm39) |
N4258S |
probably benign |
Het |
C2cd4d |
A |
G |
3: 94,271,321 (GRCm39) |
K196E |
probably benign |
Het |
Calhm6 |
A |
G |
10: 34,002,358 (GRCm39) |
S242P |
probably damaging |
Het |
Cdr2l |
A |
G |
11: 115,281,827 (GRCm39) |
K111E |
probably damaging |
Het |
Crtam |
T |
C |
9: 40,895,612 (GRCm39) |
Q41R |
possibly damaging |
Het |
Cspp1 |
A |
G |
1: 10,160,493 (GRCm39) |
K560R |
possibly damaging |
Het |
Dcaf15 |
A |
T |
8: 84,824,400 (GRCm39) |
Y571* |
probably null |
Het |
Defa39 |
A |
T |
8: 22,192,805 (GRCm39) |
W64R |
possibly damaging |
Het |
Dpy19l4 |
T |
C |
4: 11,304,344 (GRCm39) |
Y99C |
probably benign |
Het |
Edem3 |
C |
T |
1: 151,680,577 (GRCm39) |
|
probably benign |
Het |
Enpp6 |
A |
T |
8: 47,518,405 (GRCm39) |
|
probably null |
Het |
Foxf2 |
T |
A |
13: 31,810,824 (GRCm39) |
D254E |
probably benign |
Het |
Gjb5 |
T |
C |
4: 127,249,794 (GRCm39) |
N117D |
probably benign |
Het |
Glmn |
G |
A |
5: 107,709,794 (GRCm39) |
L337F |
probably damaging |
Het |
Gsdmc2 |
T |
A |
15: 63,698,675 (GRCm39) |
Y307F |
probably benign |
Het |
Gsdmc3 |
T |
A |
15: 63,738,631 (GRCm39) |
M144L |
probably benign |
Het |
Ibtk |
A |
G |
9: 85,603,046 (GRCm39) |
I653T |
probably benign |
Het |
Il24 |
T |
G |
1: 130,812,574 (GRCm39) |
D99A |
possibly damaging |
Het |
Intu |
A |
G |
3: 40,637,966 (GRCm39) |
Q484R |
probably benign |
Het |
Iqca1l |
A |
G |
5: 24,755,674 (GRCm39) |
S283P |
probably benign |
Het |
Lsp1 |
T |
C |
7: 142,045,544 (GRCm39) |
|
probably benign |
Het |
Mad1l1 |
A |
G |
5: 139,995,011 (GRCm39) |
S672P |
probably benign |
Het |
Man2a2 |
A |
T |
7: 80,013,858 (GRCm39) |
|
probably benign |
Het |
Nav1 |
T |
C |
1: 135,534,903 (GRCm39) |
|
probably benign |
Het |
Ndor1 |
A |
G |
2: 25,139,230 (GRCm39) |
L247P |
probably damaging |
Het |
Nfkbiz |
A |
T |
16: 55,636,818 (GRCm39) |
F494L |
probably benign |
Het |
Nr1d1 |
G |
A |
11: 98,661,436 (GRCm39) |
P277S |
probably damaging |
Het |
Nrg2 |
T |
C |
18: 36,151,496 (GRCm39) |
D682G |
probably benign |
Het |
Nrros |
C |
T |
16: 31,962,975 (GRCm39) |
W311* |
probably null |
Het |
Oasl1 |
G |
A |
5: 115,073,993 (GRCm39) |
D301N |
probably damaging |
Het |
Or10ag56 |
A |
T |
2: 87,139,762 (GRCm39) |
I230F |
probably benign |
Het |
Or14a258 |
A |
T |
7: 86,035,289 (GRCm39) |
I193N |
probably benign |
Het |
Or5h26 |
A |
G |
16: 58,988,503 (GRCm39) |
M1T |
probably null |
Het |
Palmd |
A |
G |
3: 116,721,083 (GRCm39) |
S123P |
probably damaging |
Het |
Patj |
A |
G |
4: 98,325,560 (GRCm39) |
|
probably benign |
Het |
Pcsk4 |
T |
C |
10: 80,161,655 (GRCm39) |
D162G |
probably benign |
Het |
Plppr5 |
A |
G |
3: 117,369,520 (GRCm39) |
D59G |
possibly damaging |
Het |
Pmvk |
A |
C |
3: 89,369,189 (GRCm39) |
R11S |
possibly damaging |
Het |
Pnliprp1 |
A |
G |
19: 58,728,901 (GRCm39) |
T363A |
probably benign |
Het |
Poll |
A |
T |
19: 45,547,277 (GRCm39) |
I65N |
probably benign |
Het |
Prox1 |
T |
A |
1: 189,893,009 (GRCm39) |
S479C |
probably damaging |
Het |
Prss50 |
A |
T |
9: 110,691,361 (GRCm39) |
S222C |
probably damaging |
Het |
Rasa3 |
A |
C |
8: 13,632,381 (GRCm39) |
|
probably benign |
Het |
Sec14l3 |
T |
C |
11: 4,025,481 (GRCm39) |
V335A |
probably benign |
Het |
Setbp1 |
C |
T |
18: 78,899,935 (GRCm39) |
S1244N |
probably benign |
Het |
Sgcg |
A |
T |
14: 61,483,213 (GRCm39) |
F63I |
probably damaging |
Het |
Skp2 |
C |
A |
15: 9,113,786 (GRCm39) |
G376C |
probably damaging |
Het |
Slc2a13 |
T |
A |
15: 91,400,695 (GRCm39) |
I176F |
probably benign |
Het |
Smc6 |
A |
G |
12: 11,339,987 (GRCm39) |
T432A |
probably benign |
Het |
Snx25 |
G |
A |
8: 46,509,150 (GRCm39) |
P478L |
probably damaging |
Het |
Taf2 |
A |
T |
15: 54,879,882 (GRCm39) |
H1151Q |
probably damaging |
Het |
Thsd1 |
A |
G |
8: 22,749,673 (GRCm39) |
K795R |
possibly damaging |
Het |
Tmem108 |
G |
A |
9: 103,361,976 (GRCm39) |
L537F |
possibly damaging |
Het |
Ubr3 |
T |
C |
2: 69,766,361 (GRCm39) |
Y410H |
probably damaging |
Het |
Vav3 |
T |
C |
3: 109,555,055 (GRCm39) |
|
probably null |
Het |
Vmn1r224 |
T |
C |
17: 20,639,524 (GRCm39) |
Y34H |
probably benign |
Het |
Zeb1 |
T |
C |
18: 5,766,458 (GRCm39) |
V323A |
possibly damaging |
Het |
Zfp652 |
A |
G |
11: 95,644,834 (GRCm39) |
D240G |
probably benign |
Het |
Zfp963 |
A |
T |
8: 70,195,996 (GRCm39) |
C152* |
probably null |
Het |
|
Other mutations in Morc3 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL00561:Morc3
|
APN |
16 |
93,670,283 (GRCm39) |
critical splice donor site |
probably null |
|
IGL01015:Morc3
|
APN |
16 |
93,659,534 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL01374:Morc3
|
APN |
16 |
93,641,101 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL01634:Morc3
|
APN |
16 |
93,670,125 (GRCm39) |
missense |
probably benign |
0.02 |
IGL01845:Morc3
|
APN |
16 |
93,657,455 (GRCm39) |
missense |
probably damaging |
0.96 |
IGL02202:Morc3
|
APN |
16 |
93,667,749 (GRCm39) |
missense |
probably benign |
0.01 |
IGL02478:Morc3
|
APN |
16 |
93,661,844 (GRCm39) |
splice site |
probably benign |
|
IGL03026:Morc3
|
APN |
16 |
93,659,612 (GRCm39) |
splice site |
probably benign |
|
IGL03115:Morc3
|
APN |
16 |
93,667,971 (GRCm39) |
missense |
probably damaging |
0.99 |
Ballista
|
UTSW |
16 |
93,638,271 (GRCm39) |
missense |
probably damaging |
1.00 |
mindy
|
UTSW |
16 |
93,663,421 (GRCm39) |
missense |
probably benign |
0.03 |
Pfaff
|
UTSW |
16 |
93,659,572 (GRCm39) |
missense |
probably damaging |
0.96 |
shield
|
UTSW |
16 |
93,671,700 (GRCm39) |
missense |
probably damaging |
0.98 |
sparkle
|
UTSW |
16 |
93,667,362 (GRCm39) |
missense |
probably damaging |
1.00 |
Stooges
|
UTSW |
16 |
93,638,275 (GRCm39) |
missense |
probably damaging |
1.00 |
Sword
|
UTSW |
16 |
93,671,645 (GRCm39) |
critical splice acceptor site |
probably null |
|
R0173:Morc3
|
UTSW |
16 |
93,629,094 (GRCm39) |
splice site |
probably null |
|
R0413:Morc3
|
UTSW |
16 |
93,667,362 (GRCm39) |
missense |
probably damaging |
1.00 |
R0639:Morc3
|
UTSW |
16 |
93,650,738 (GRCm39) |
missense |
probably damaging |
1.00 |
R0842:Morc3
|
UTSW |
16 |
93,670,284 (GRCm39) |
critical splice donor site |
probably null |
|
R1134:Morc3
|
UTSW |
16 |
93,667,557 (GRCm39) |
missense |
probably benign |
|
R1162:Morc3
|
UTSW |
16 |
93,649,996 (GRCm39) |
missense |
probably damaging |
1.00 |
R1498:Morc3
|
UTSW |
16 |
93,650,743 (GRCm39) |
missense |
probably damaging |
1.00 |
R1520:Morc3
|
UTSW |
16 |
93,641,129 (GRCm39) |
missense |
probably damaging |
0.96 |
R1603:Morc3
|
UTSW |
16 |
93,663,391 (GRCm39) |
missense |
probably benign |
|
R1622:Morc3
|
UTSW |
16 |
93,671,694 (GRCm39) |
missense |
probably benign |
0.28 |
R1630:Morc3
|
UTSW |
16 |
93,663,421 (GRCm39) |
missense |
probably benign |
0.03 |
R1818:Morc3
|
UTSW |
16 |
93,652,398 (GRCm39) |
missense |
probably damaging |
1.00 |
R1902:Morc3
|
UTSW |
16 |
93,667,385 (GRCm39) |
missense |
probably damaging |
1.00 |
R2261:Morc3
|
UTSW |
16 |
93,650,109 (GRCm39) |
splice site |
probably benign |
|
R2360:Morc3
|
UTSW |
16 |
93,638,275 (GRCm39) |
missense |
probably damaging |
1.00 |
R2407:Morc3
|
UTSW |
16 |
93,641,215 (GRCm39) |
critical splice donor site |
probably null |
|
R2519:Morc3
|
UTSW |
16 |
93,659,427 (GRCm39) |
splice site |
probably null |
|
R3736:Morc3
|
UTSW |
16 |
93,671,700 (GRCm39) |
missense |
probably damaging |
0.98 |
R3873:Morc3
|
UTSW |
16 |
93,659,324 (GRCm39) |
missense |
probably damaging |
0.99 |
R4114:Morc3
|
UTSW |
16 |
93,670,227 (GRCm39) |
missense |
probably benign |
0.01 |
R4115:Morc3
|
UTSW |
16 |
93,670,227 (GRCm39) |
missense |
probably benign |
0.01 |
R4116:Morc3
|
UTSW |
16 |
93,670,227 (GRCm39) |
missense |
probably benign |
0.01 |
R4472:Morc3
|
UTSW |
16 |
93,671,645 (GRCm39) |
critical splice acceptor site |
probably null |
|
R4609:Morc3
|
UTSW |
16 |
93,661,856 (GRCm39) |
missense |
probably benign |
0.01 |
R4708:Morc3
|
UTSW |
16 |
93,670,126 (GRCm39) |
missense |
probably benign |
0.19 |
R4883:Morc3
|
UTSW |
16 |
93,667,250 (GRCm39) |
critical splice acceptor site |
probably null |
|
R4945:Morc3
|
UTSW |
16 |
93,668,082 (GRCm39) |
missense |
probably damaging |
1.00 |
R4965:Morc3
|
UTSW |
16 |
93,657,475 (GRCm39) |
nonsense |
probably null |
|
R5399:Morc3
|
UTSW |
16 |
93,659,427 (GRCm39) |
splice site |
probably null |
|
R5481:Morc3
|
UTSW |
16 |
93,659,543 (GRCm39) |
missense |
probably damaging |
0.99 |
R5540:Morc3
|
UTSW |
16 |
93,644,268 (GRCm39) |
missense |
probably benign |
|
R5970:Morc3
|
UTSW |
16 |
93,663,341 (GRCm39) |
missense |
possibly damaging |
0.65 |
R6006:Morc3
|
UTSW |
16 |
93,663,381 (GRCm39) |
missense |
possibly damaging |
0.67 |
R6044:Morc3
|
UTSW |
16 |
93,663,330 (GRCm39) |
missense |
probably benign |
0.02 |
R6045:Morc3
|
UTSW |
16 |
93,671,733 (GRCm39) |
missense |
probably damaging |
1.00 |
R6155:Morc3
|
UTSW |
16 |
93,659,313 (GRCm39) |
missense |
possibly damaging |
0.94 |
R6165:Morc3
|
UTSW |
16 |
93,638,271 (GRCm39) |
missense |
probably damaging |
1.00 |
R6225:Morc3
|
UTSW |
16 |
93,642,082 (GRCm39) |
nonsense |
probably null |
|
R6240:Morc3
|
UTSW |
16 |
93,659,572 (GRCm39) |
missense |
probably damaging |
0.96 |
R6835:Morc3
|
UTSW |
16 |
93,644,309 (GRCm39) |
missense |
probably damaging |
1.00 |
R6918:Morc3
|
UTSW |
16 |
93,650,023 (GRCm39) |
missense |
probably benign |
0.36 |
R6944:Morc3
|
UTSW |
16 |
93,667,460 (GRCm39) |
missense |
probably benign |
|
R7311:Morc3
|
UTSW |
16 |
93,646,061 (GRCm39) |
missense |
probably damaging |
1.00 |
R7398:Morc3
|
UTSW |
16 |
93,671,748 (GRCm39) |
missense |
probably damaging |
1.00 |
R7553:Morc3
|
UTSW |
16 |
93,667,824 (GRCm39) |
missense |
probably damaging |
0.98 |
R8056:Morc3
|
UTSW |
16 |
93,642,064 (GRCm39) |
missense |
probably benign |
0.07 |
R8299:Morc3
|
UTSW |
16 |
93,650,088 (GRCm39) |
missense |
probably damaging |
1.00 |
R8317:Morc3
|
UTSW |
16 |
93,659,417 (GRCm39) |
missense |
probably benign |
0.25 |
R8542:Morc3
|
UTSW |
16 |
93,644,319 (GRCm39) |
critical splice donor site |
probably null |
|
R8697:Morc3
|
UTSW |
16 |
93,667,908 (GRCm39) |
missense |
probably benign |
0.00 |
R8739:Morc3
|
UTSW |
16 |
93,657,398 (GRCm39) |
missense |
probably damaging |
1.00 |
R9072:Morc3
|
UTSW |
16 |
93,667,482 (GRCm39) |
missense |
probably benign |
0.00 |
R9235:Morc3
|
UTSW |
16 |
93,659,321 (GRCm39) |
missense |
probably damaging |
1.00 |
R9305:Morc3
|
UTSW |
16 |
93,667,302 (GRCm39) |
missense |
probably benign |
0.00 |
R9405:Morc3
|
UTSW |
16 |
93,642,036 (GRCm39) |
missense |
probably damaging |
1.00 |
R9431:Morc3
|
UTSW |
16 |
93,667,771 (GRCm39) |
nonsense |
probably null |
|
R9440:Morc3
|
UTSW |
16 |
93,649,975 (GRCm39) |
critical splice acceptor site |
probably null |
|
R9524:Morc3
|
UTSW |
16 |
93,667,401 (GRCm39) |
missense |
probably benign |
0.09 |
R9571:Morc3
|
UTSW |
16 |
93,641,107 (GRCm39) |
missense |
possibly damaging |
0.89 |
X0023:Morc3
|
UTSW |
16 |
93,644,287 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Predicted Primers |
PCR Primer
(F):5'- GCAAAAGAAATCCACGTGCTTTG -3'
(R):5'- ACCTTTCACATTCACATGAACTGC -3'
Sequencing Primer
(F):5'- AATCCACGTGCTTTGGGTAATTTTTC -3'
(R):5'- TCACATGAACTGCAATCTTAAAATTG -3'
|
Posted On |
2014-09-18 |